Variant report

Variant	nsv886722
Chromosome Location	chr6:141345649-141457362
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:141368847..141371211-chr6:141441776..141443428,2	K562	blood:
2	chr6:141210884..141213823-chr6:141384643..141387034,2	K562	blood:
3	chr6:141368847..141371211-chr6:141441776..141443428,2	K562	blood:
4	chr6:141450586..141452410-chr6:141456165..141457885,2	K562	blood:
5	chr6:141356659..141359545-chr6:141368726..141370733,2	K562	blood:
6	chr6:141450586..141452410-chr6:141456165..141457885,2	K562	blood:
7	chr6:141356659..141359545-chr6:141368726..141370733,2	K562	blood:

No data

Extended variants
information (count: 2149 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2149 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553086268	chr6:141346403-141346404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139001817	chr6:141346435-141346436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs202141700	chr6:141346437-141346438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371738238	chr6:141346455-141346456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149051368	chr6:141346462-141346463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184745183	chr6:141346510-141346511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576269169	chr6:141346511-141346512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190036373	chr6:141346532-141346533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114316744	chr6:141346555-141346556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111313262	chr6:141346584-141346585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143072008	chr6:141346589-141346590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555236467	chr6:141346667-141346668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181620593	chr6:141346742-141346743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186452720	chr6:141346751-141346752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115547680	chr6:141346765-141346766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114924712	chr6:141346766-141346767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537244140	chr6:141346860-141346861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537905969	chr6:141346895-141346896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571041509	chr6:141346914-141346915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535045731	chr6:141346946-141346947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73572969	chr6:141347011-141347012	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs78976736	chr6:141347036-141347037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369620026	chr6:141347096-141347097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs151180665	chr6:141347133-141347134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374884192	chr6:141347139-141347140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200451663	chr6:141347145-141347146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548572296	chr6:141347164-141347165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533934059	chr6:141347165-141347166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576236778	chr6:141347191-141347192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115378069	chr6:141347197-141347198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565210374	chr6:141347253-141347254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190862380	chr6:141347267-141347268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553441301	chr6:141347338-141347339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372966025	chr6:141347370-141347371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541041239	chr6:141347374-141347375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112524945	chr6:141347385-141347386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377008813	chr6:141347412-141347413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548350514	chr6:141347464-141347465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569099987	chr6:141347492-141347493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185156889	chr6:141347516-141347517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189569959	chr6:141347517-141347518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552474262	chr6:141347549-141347550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571145254	chr6:141347606-141347607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534953503	chr6:141347660-141347661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34343911	chr6:141347710-141347711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183032143	chr6:141347714-141347715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531845004	chr6:141347732-141347733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568069340	chr6:141347772-141347773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550627242	chr6:141347786-141347787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1970348	chr6:141347816-141347817	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141346400-141348600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr6:141347000-141348600	Enhancers	Fetal Intestine Small	intestine
3	chr6:141347000-141348600	Enhancers	HepG2	liver
4	chr6:141347000-141349400	Enhancers	Liver	Liver
5	chr6:141347200-141347600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr6:141347400-141347800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:141347600-141348000	Enhancers	A549	lung
8	chr6:141347600-141348400	Enhancers	Fetal Intestine Large	intestine
9	chr6:141348600-141354000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:141349400-141356000	Weak transcription	Liver	Liver
11	chr6:141353800-141354600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:141354000-141354400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr6:141354000-141354600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:141354000-141354800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:141354400-141354800	Enhancers	NHEK	skin
16	chr6:141354400-141356600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:141356000-141356200	Flanking Active TSS	Liver	Liver
18	chr6:141356200-141356600	Active TSS	Liver	Liver
19	chr6:141356600-141357200	Enhancers	Liver	Liver
20	chr6:141356600-141357800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr6:141356800-141357200	Enhancers	Fetal Lung	lung
22	chr6:141359000-141359800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:141362600-141363200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:141362600-141363200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:141362600-141363400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
26	chr6:141362600-141363400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:141362800-141363200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:141367400-141367800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:141367800-141372200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:141369600-141370000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:141370000-141370200	Enhancers	Right Atrium	heart
32	chr6:141370000-141371600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:141370000-141372200	Enhancers	Fetal Heart	heart
34	chr6:141370200-141370400	Enhancers	Fetal Lung	lung
35	chr6:141370200-141371800	Weak transcription	Right Atrium	heart
36	chr6:141370600-141370800	Enhancers	Ovary	ovary
37	chr6:141370800-141371800	Weak transcription	Ovary	ovary
38	chr6:141371600-141371800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:141371800-141372400	Enhancers	Right Atrium	heart
40	chr6:141371800-141373000	Enhancers	Ovary	ovary
41	chr6:141372000-141372400	Enhancers	Fetal Lung	lung
42	chr6:141372200-141372400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:141377800-141379200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:141378000-141379000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:141378200-141380200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:141378400-141378800	Enhancers	Fetal Heart	heart
47	chr6:141378400-141379200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:141378400-141379200	Enhancers	Right Atrium	heart
49	chr6:141378400-141379400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr6:141378400-141379800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links